Table 2.
Results of cytochrome P450 (CYP) genotyping in the patient with P450 oxidoreductase (POR) deficiency (ORD) due to homozygous POR A287P (subject 1) and her clinically unaffected, heterozygous mother (subject 2), listing the identified variant alleles (*) of CYP2C9, CYP2C19 and CYP2D6 previously described to affect enzymatic activity.
Predicted drug metabolizer phenotype (according to variant CYP allele genotype) | ||
---|---|---|
Drug-metabolizing CYP enzymes | Subject 1 (A287P/A287P) | Subject 2 (A287P/WT) |
CYP2C9 | Intermediate (*1/*2) | Rapid (*1/*1) |
CYP2C19 | Rapid (*1/*1) | Rapid (*1/*1) |
CYP2D6 | Ultrarapid (2×*2/*1) | Rapid (*1/*1) |